Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233035 | SCV000762149 | uncertain significance | Capillary malformation-arteriovenous malformation syndrome | 2017-09-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RASA1-related disease. This sequence change replaces leucine with proline at codon 620 of the RASA1 protein (p.Leu620Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
Ambry Genetics | RCV002406384 | SCV002722196 | uncertain significance | Cardiovascular phenotype | 2023-08-08 | criteria provided, single submitter | clinical testing | The p.L620P variant (also known as c.1859T>C), located in coding exon 14 of the RASA1 gene, results from a T to C substitution at nucleotide position 1859. The leucine at codon 620 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |